Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01453:Adgrg6'

84705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adgrg6

Ensembl Gene

ENSMUSG00000039116

Gene Name

adhesion G protein-coupled receptor G6

Synonyms

1190004A11Rik, DREG, LOC215798, Gpr126

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01453

Quality Score

Status

Chromosome

Chromosomal Location

14278327-14421403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14296202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1066 (M1066K)

Ref Sequence

ENSEMBL: ENSMUSP00000043055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041168] [ENSMUST00000208429]

AlphaFold

Q6F3F9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041168
AA Change: M1066K

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: M1066K

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
CUB	41	149	8.59e-33	SMART
low complexity region	609	620	N/A	INTRINSIC
low complexity region	695	706	N/A	INTRINSIC
GPS	769	822	2.48e-12	SMART
Pfam:7tm_2	831	1080	4.1e-52	PFAM
low complexity region	1122	1154	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208429
AA Change: M1094K

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null mutation die during organogenesis and display signs of circulatory failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,353,834 (GRCm39)	T3719A	probably damaging	Het
Abcb5	A	G	12: 118,831,705 (GRCm39)	S1216P	probably damaging	Het
Abl1	A	G	2: 31,668,989 (GRCm39)	T104A	probably damaging	Het
Armc1	T	C	3: 19,198,594 (GRCm39)	N122S	probably benign	Het
Fat1	C	T	8: 45,504,307 (GRCm39)	T4600M	probably damaging	Het
Hrh1	T	A	6: 114,458,123 (GRCm39)	I468N	probably damaging	Het
Krt34	A	T	11: 99,930,916 (GRCm39)	L162Q	probably damaging	Het
Macrod2	A	T	2: 140,294,492 (GRCm39)		probably benign	Het
Mfsd9	C	A	1: 40,829,638 (GRCm39)		probably benign	Het
Nap1l1	C	T	10: 111,328,839 (GRCm39)	T256I	probably benign	Het
Or12e1	A	G	2: 87,022,192 (GRCm39)	I54V	probably benign	Het
Or5h22	T	C	16: 58,895,132 (GRCm39)	I104V	probably benign	Het
Or6k4	A	G	1: 173,964,679 (GRCm39)	Y123C	possibly damaging	Het
Pard6a	T	A	8: 106,429,309 (GRCm39)		probably null	Het
Pmm2	G	A	16: 8,466,532 (GRCm39)	R119Q	probably damaging	Het
Por	C	T	5: 135,763,040 (GRCm39)	Q517*	probably null	Het
Ppil6	T	C	10: 41,374,473 (GRCm39)	I118T	probably benign	Het
Psg26	A	G	7: 18,213,999 (GRCm39)	V221A	possibly damaging	Het
Ptpru	C	A	4: 131,496,803 (GRCm39)		probably benign	Het
Rpl27a	T	A	7: 109,118,832 (GRCm39)	V15E	probably benign	Het
Setd1b	T	C	5: 123,296,527 (GRCm39)		probably benign	Het
Slc17a1	A	G	13: 24,058,714 (GRCm39)	N56S	probably damaging	Het
Sybu	A	T	15: 44,536,201 (GRCm39)	D508E	probably damaging	Het
Tada2b	A	C	5: 36,633,686 (GRCm39)	N222K	probably damaging	Het
Tbcb	T	C	7: 29,930,627 (GRCm39)		probably null	Het
Tmprss11f	C	A	5: 86,692,691 (GRCm39)	G78*	probably null	Het
Vmn2r65	T	C	7: 84,589,708 (GRCm39)	Y736C	probably damaging	Het
Zc3h7a	G	A	16: 10,967,242 (GRCm39)	P517S	probably benign	Het
Zfp280d	A	G	9: 72,229,868 (GRCm39)	T392A	possibly damaging	Het
Zfp318	T	A	17: 46,719,942 (GRCm39)		probably null	Het

Other mutations in Adgrg6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Adgrg6	APN	10	14,343,194 (GRCm39)	missense	probably damaging	0.99
IGL00428:Adgrg6	APN	10	14,343,119 (GRCm39)	missense	probably benign
IGL00489:Adgrg6	APN	10	14,316,147 (GRCm39)	splice site	probably null
IGL00496:Adgrg6	APN	10	14,326,322 (GRCm39)	critical splice donor site	probably null
IGL00743:Adgrg6	APN	10	14,411,703 (GRCm39)	splice site	probably benign
IGL01011:Adgrg6	APN	10	14,285,542 (GRCm39)	missense	probably damaging	0.96
IGL01291:Adgrg6	APN	10	14,286,274 (GRCm39)	missense	possibly damaging	0.92
IGL01594:Adgrg6	APN	10	14,310,084 (GRCm39)	missense	probably damaging	1.00
IGL02013:Adgrg6	APN	10	14,302,555 (GRCm39)	missense	probably damaging	0.98
IGL02037:Adgrg6	APN	10	14,317,185 (GRCm39)	missense	probably damaging	0.98
IGL02070:Adgrg6	APN	10	14,343,336 (GRCm39)	missense	probably damaging	1.00
IGL02164:Adgrg6	APN	10	14,399,299 (GRCm39)	intron	probably benign
IGL02262:Adgrg6	APN	10	14,317,140 (GRCm39)	missense	probably benign	0.00
IGL02272:Adgrg6	APN	10	14,344,573 (GRCm39)	missense	probably damaging	1.00
IGL02605:Adgrg6	APN	10	14,342,976 (GRCm39)	missense	probably damaging	1.00
IGL02800:Adgrg6	APN	10	14,296,349 (GRCm39)	missense	probably damaging	1.00
IGL03175:Adgrg6	APN	10	14,315,502 (GRCm39)	missense	probably benign	0.04
ANU05:Adgrg6	UTSW	10	14,286,274 (GRCm39)	missense	possibly damaging	0.92
R0245:Adgrg6	UTSW	10	14,333,810 (GRCm39)	splice site	probably benign
R0356:Adgrg6	UTSW	10	14,302,642 (GRCm39)	missense	possibly damaging	0.47
R0388:Adgrg6	UTSW	10	14,326,402 (GRCm39)	missense	probably benign	0.00
R0508:Adgrg6	UTSW	10	14,326,360 (GRCm39)	missense	probably benign	0.32
R0626:Adgrg6	UTSW	10	14,312,628 (GRCm39)	missense	probably damaging	1.00
R1116:Adgrg6	UTSW	10	14,314,172 (GRCm39)	missense	probably benign	0.00
R1205:Adgrg6	UTSW	10	14,310,083 (GRCm39)	missense	probably damaging	1.00
R1438:Adgrg6	UTSW	10	14,344,585 (GRCm39)	missense	possibly damaging	0.68
R1599:Adgrg6	UTSW	10	14,343,057 (GRCm39)	nonsense	probably null
R1714:Adgrg6	UTSW	10	14,315,514 (GRCm39)	missense	possibly damaging	0.64
R1728:Adgrg6	UTSW	10	14,315,526 (GRCm39)	missense	probably damaging	1.00
R1729:Adgrg6	UTSW	10	14,315,526 (GRCm39)	missense	probably damaging	1.00
R1784:Adgrg6	UTSW	10	14,315,526 (GRCm39)	missense	probably damaging	1.00
R2124:Adgrg6	UTSW	10	14,342,930 (GRCm39)	missense	probably damaging	0.98
R2906:Adgrg6	UTSW	10	14,308,694 (GRCm39)	missense	probably benign	0.03
R3410:Adgrg6	UTSW	10	14,316,114 (GRCm39)	missense	probably benign	0.10
R3982:Adgrg6	UTSW	10	14,324,589 (GRCm39)	missense	probably benign	0.10
R4376:Adgrg6	UTSW	10	14,344,794 (GRCm39)	missense	probably damaging	1.00
R4376:Adgrg6	UTSW	10	14,314,238 (GRCm39)	missense	probably benign	0.02
R4445:Adgrg6	UTSW	10	14,285,507 (GRCm39)	missense	probably damaging	1.00
R4446:Adgrg6	UTSW	10	14,285,507 (GRCm39)	missense	probably damaging	1.00
R4472:Adgrg6	UTSW	10	14,312,525 (GRCm39)	missense	probably damaging	1.00
R4622:Adgrg6	UTSW	10	14,317,243 (GRCm39)	missense	probably damaging	1.00
R4623:Adgrg6	UTSW	10	14,317,243 (GRCm39)	missense	probably damaging	1.00
R4649:Adgrg6	UTSW	10	14,344,571 (GRCm39)	missense	probably damaging	1.00
R4882:Adgrg6	UTSW	10	14,310,081 (GRCm39)	missense	possibly damaging	0.88
R4978:Adgrg6	UTSW	10	14,296,205 (GRCm39)	missense	probably damaging	1.00
R5246:Adgrg6	UTSW	10	14,302,509 (GRCm39)	missense	probably damaging	1.00
R5420:Adgrg6	UTSW	10	14,302,730 (GRCm39)	nonsense	probably null
R5461:Adgrg6	UTSW	10	14,296,248 (GRCm39)	missense	probably damaging	1.00
R5580:Adgrg6	UTSW	10	14,286,228 (GRCm39)	nonsense	probably null
R5644:Adgrg6	UTSW	10	14,308,678 (GRCm39)	missense	probably damaging	1.00
R5847:Adgrg6	UTSW	10	14,302,521 (GRCm39)	missense	probably damaging	1.00
R5900:Adgrg6	UTSW	10	14,314,163 (GRCm39)	critical splice donor site	probably null
R6302:Adgrg6	UTSW	10	14,317,227 (GRCm39)	missense	probably benign	0.22
R6318:Adgrg6	UTSW	10	14,343,241 (GRCm39)	missense	probably benign
R6319:Adgrg6	UTSW	10	14,307,366 (GRCm39)	missense	probably damaging	1.00
R6339:Adgrg6	UTSW	10	14,310,091 (GRCm39)	missense	probably damaging	1.00
R6683:Adgrg6	UTSW	10	14,331,911 (GRCm39)	missense	probably damaging	0.97
R6983:Adgrg6	UTSW	10	14,307,439 (GRCm39)	missense	probably damaging	1.00
R7337:Adgrg6	UTSW	10	14,343,095 (GRCm39)	missense	possibly damaging	0.82
R7378:Adgrg6	UTSW	10	14,411,636 (GRCm39)	missense	probably benign	0.16
R7463:Adgrg6	UTSW	10	14,310,140 (GRCm39)	missense	possibly damaging	0.82
R7470:Adgrg6	UTSW	10	14,319,810 (GRCm39)	missense	probably benign
R7558:Adgrg6	UTSW	10	14,307,351 (GRCm39)	missense	probably damaging	1.00
R7593:Adgrg6	UTSW	10	14,344,573 (GRCm39)	missense	probably damaging	1.00
R7747:Adgrg6	UTSW	10	14,326,321 (GRCm39)	critical splice donor site	probably null
R7768:Adgrg6	UTSW	10	14,307,410 (GRCm39)	missense	probably benign	0.00
R7962:Adgrg6	UTSW	10	14,296,428 (GRCm39)	missense	probably damaging	1.00
R8049:Adgrg6	UTSW	10	14,303,943 (GRCm39)	missense	probably benign	0.00
R8059:Adgrg6	UTSW	10	14,344,794 (GRCm39)	missense	probably damaging	0.99
R8373:Adgrg6	UTSW	10	14,343,078 (GRCm39)	missense	probably benign	0.03
R8406:Adgrg6	UTSW	10	14,343,082 (GRCm39)	missense	probably benign	0.05
R8722:Adgrg6	UTSW	10	14,296,188 (GRCm39)	missense	probably benign	0.35
R9046:Adgrg6	UTSW	10	14,323,858 (GRCm39)	missense	probably benign
R9422:Adgrg6	UTSW	10	14,302,740 (GRCm39)	missense	probably damaging	1.00
R9482:Adgrg6	UTSW	10	14,307,423 (GRCm39)	missense	probably benign	0.11
R9682:Adgrg6	UTSW	10	14,316,128 (GRCm39)	missense	possibly damaging	0.49
R9764:Adgrg6	UTSW	10	14,302,515 (GRCm39)	missense	probably benign	0.05
R9794:Adgrg6	UTSW	10	14,314,196 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-11